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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: Zellweger syndrome (MONDO:0019609)
..Starting node ..peroxisome biogenesis disorder 5A (Zellweger) ()
Child Nodes:
Sister Nodes:
..peroxisome biogenesis disorder 10A (Zellweger) ()
..peroxisome biogenesis disorder 11A (Zellweger) ()
..peroxisome biogenesis disorder 12A (Zellweger) ()
..peroxisome biogenesis disorder 13A (Zellweger) ()
..peroxisome biogenesis disorder 1A (Zellweger) ()
..peroxisome biogenesis disorder 1B ()
..peroxisome biogenesis disorder 2A (Zellweger) ()
..peroxisome biogenesis disorder 3A (Zellweger) ()
..peroxisome biogenesis disorder 4A (Zellweger) ()
..peroxisome biogenesis disorder 5A (Zellweger) ()
..peroxisome biogenesis disorder 6A (Zellweger) ()
..peroxisome biogenesis disorder 7A (Zellweger) ()
..peroxisome biogenesis disorder 8A (Zellweger) ()
..peroxisome biogenesis disorder 9B ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

13932

Name:

peroxisome biogenesis disorder 5A (Zellweger)

Definition:

Alternative IDs:

614866

ParentIDs:

TreeNumbers:

Synonyms:

PBD5A; peroxisome biogenesis disorder 5A (Zellweger); peroxisome biogenesis disorder 5A (Zellweger); PBD5A; peroxisome biogenesis disorder, complementation group 10; peroxisome biogenesis disorder, complementation group 5; peroxisome biogenesis disorder, complementation group F

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 614866;
MSeqDR :
Genes: PEX2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001627	Abnormal heart morphology
3	HP:0011039	Abnormality of the helix
4	HP:0001284	Areflexia
5	HP:0001088	Brushfield spots
6	HP:0012385	Camptodactyly
7	HP:0000518	Cataract NAMDC: Cataracts
8	HP:0000175	Cleft palate
9	HP:0008665	Clitoral hypertrophy
10	HP:0000028	Cryptorchidism
11	HP:0002967	Cubitus valgus
12	HP:0000286	Epicanthus
13	HP:0010655	Epiphyseal stippling
14	HP:0001508	Failure to thrive
15	HP:0012368	Flat face
16	HP:0001290	Generalized hypotonia
17	HP:0008935	Generalized neonatal hypotonia
18	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
19	HP:0001263	Global developmental delay NAMDC: Mental retardation
20	HP:0002240	Hepatomegaly
21	HP:0001433	Hepatosplenomegaly
22	HP:0000348	High forehead
23	HP:0000316	Hypertelorism
24	HP:0001249	Intellectual disability
25	HP:0001401	Intrahepatic biliary dysgenesis
26	HP:0001511	Intrauterine growth retardation
27	HP:0000952	Jaundice
28	HP:0000239	Large fontanelles
29	HP:0000369	Low-set ears
30	HP:0007227	Macrogyria
31	HP:0001840	Metatarsus adductus
32	HP:0000347	Micrognathia
33	HP:0007759	Opacification of the corneal stroma
34	HP:0001093	Optic nerve dysplasia
35	HP:0100540	Palpebral edema
36	HP:0000580	Pigmentary retinopathy NAMDC: Pigmentary retinopathy
37	HP:0002126	Polymicrogyria
38	HP:0002033	Poor suck
39	HP:0004734	Renal cortical microcysts
40	HP:0000311	Round face
41	HP:0001250	Seizures NAMDC: Seizures
42	HP:0000954	Single transverse palmar crease
43	HP:0001744	Splenomegaly
44	HP:0002764	Stippled chondral calcification
45	HP:0001762	Talipes equinovarus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000318.3(PEX2):c.618del (p.Leu207fs)	5828	PEX2	Pathogenic/Likely pathogenic	2132043567	RCV001782603\|RCV002034605;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895797	77895797	77895796	-
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)	5828	PEX2	Pathogenic/Likely pathogenic	-1	RCV003048592;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895804	77895805	NC_000008.10:g.77895805_77895806del	-
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)	5828	PEX2	Pathogenic/Likely pathogenic	61752124	RCV000664468\|RCV000780588\|RCV001053880\|RCV001275871\|RCV002281578\|RCV003231574;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:	8	77896042	77896042	8:g.77896042G>A	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)	5828	PEX2	Pathogenic/Likely pathogenic	764771123	RCV000310327\|RCV000410454\|RCV000587540\|RCV000726022\|RCV001275873;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189\|MedGen:C3661900\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896070	77896076	8:g.77896070_77896076del	ClinGen:CA4788726	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.325dup (p.Cys109fs)	5828	PEX2	Pathogenic/Likely pathogenic	1052655986	RCV002271943\|RCV003096127;	N	MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896089	77896090	77896089	-
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)	5828	PEX2	Pathogenic/Likely pathogenic	-1	RCV003087553;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896101	77896101	NC_000008.10:g.77896101C>T	-
NM_000318.3(PEX2):c.310dup (p.Ile104fs)	5828	PEX2	Pathogenic/Likely pathogenic	1235008965	RCV000598973\|RCV001275874\|RCV001388280;	N	MedGen:C3661900\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896104	77896105	NC_000008.10:g.77896110dup	ClinGen:CA461773489	CN517202 not provided;
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)	5828	PEX2	Pathogenic/Likely pathogenic	1586070043	RCV000805043;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896183	77896183	8:g.77896183G>A	-
NM_000318.3(PEX2):c.218del (p.Asn73fs)	5828	PEX2	Pathogenic/Likely pathogenic	1586070089	RCV000808915;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896197	77896197	8:g.77896197_77896197del	-
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)	5828	PEX2	Pathogenic/Likely pathogenic	1224562361	RCV001941162;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896258	77896258	77896258	-
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer)	5828	PEX2	Pathogenic/Likely pathogenic	2132044757	RCV001814479\|RCV001882604;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896269	77896269	77896268	-
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)	5828	PEX2	Pathogenic/Likely pathogenic	1174648906	RCV001210965;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896378	77896381	8:g.77896378_77896381del	-
NC_000008.10:g.(?_77895497)_(77896414_?)del	5828	PEX2	Pathogenic	-1	RCV003111005;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895497	77896414		-
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)	5828	PEX2	Pathogenic	61752128	RCV000128530;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895676	77895676	8:g.77895676A>G	ClinGen:CA163284,OMIM:170993.0004	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer)	5828	PEX2	Pathogenic	2132043667	RCV001908759;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895844	77895844	77895843	-
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs)	5828	PEX2	Pathogenic	2132043724	RCV001982944;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895864	77895865	77895864	-
NM_000318.3(PEX2):c.550del (p.Cys184fs)	5828	PEX2	Pathogenic	63545361	RCV000794931\|RCV001391252;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895865	77895865	8:g.77895865_77895865del	-
NM_000318.3(PEX2):c.549_550del (p.Ile183fs)	5828	PEX2	Pathogenic	756891007	RCV001064243;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895865	77895866	8:g.77895865_77895866del	-
NM_000318.3(PEX2):c.524del (p.Ser175fs)	5828	PEX2	Pathogenic	2132043781	RCV001985225;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895891	77895891	77895890	-
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)	5828	PEX2	Pathogenic	1586069639	RCV000820647;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895918	77895918	8:g.77895918A>T	-
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)	5828	PEX2	Pathogenic	-1	RCV003046683;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895940	77895940	NC_000008.10:g.77895940G>A	-
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs)	5828	PEX2	Pathogenic	2132043966	RCV001972849;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895959	77895960	77895959	-
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)	5828	PEX2	Pathogenic	-1	RCV002846860;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895988	77895989	NC_000008.10:g.77895992_77896004dup	-
NM_000318.3(PEX2):c.416_417del (p.Val139fs)	5828	PEX2	Pathogenic	2132044032	RCV001863848;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895998	77895999	77895997	-
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs)	5828	PEX2	Pathogenic	2132044079	RCV001970033;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896018	77896019	77896018	-
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter)	5828	PEX2	Pathogenic	1224224276	RCV001950406;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896029	77896029	77896029	-
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)	5828	PEX2	Pathogenic	61752123	RCV000014703\|RCV000032924\|RCV000589554\|RCV001275872\|RCV002223176\|RCV002496363;	Y	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MedGen:C3661900\|MO	8	77896060	77896060	8:g.77896060G>A	ClinGen:CA123377,OMIM:170993.0001	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)	5828	PEX2	Pathogenic	2132044384	RCV001573354\|RCV002568470;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896129	77896129	77896129	-
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)	5828	PEX2	Pathogenic	61752122	RCV000128529\|RCV000781714\|RCV001275875;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896132	77896136	NC_000008.10:g.77896133_77896137del	ClinGen:CA163283,OMIM:170993.0003
NM_000318.3(PEX2):c.220dup (p.Ala74fs)	5828	PEX2	Pathogenic	777974798	RCV001953126;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896194	77896195	77896194	-
NM_000318.3(PEX2):c.118del (p.Cys40fs)	5828	PEX2	Pathogenic	-1	RCV002727203;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896297	77896297	NC_000008.10:g.77896297del	-
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter)	5828	PEX2	Pathogenic	61752118	RCV001383604;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896300	77896300	77896300	-
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter)	5828	PEX2	Pathogenic	149287302	RCV001960587;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896324	77896324	77896324	-
NM_000318.3(PEX2):c.79_80del (p.Lys27fs)	5828	PEX2	Pathogenic	1261498405	RCV001385405;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896335	77896336	77896334	-
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)	5828	PEX2	Pathogenic	-1	RCV002971495;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896375	77896376	NC_000008.10:g.77896375CT[1]	-
NM_000318.3(PEX2):c.24_25del (p.Lys9fs)	5828	PEX2	Pathogenic	2132045027	RCV001975005;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896390	77896391	77896389	-
NM_000318.3(PEX2):c.15dup (p.Glu6fs)	5828	PEX2	Pathogenic	-1	RCV002852036;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896399	77896400	NC_000008.10:g.77896403dup	-
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter)	5828	PEX2	Pathogenic	1297517393	RCV001962432;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896405	77896405	77896405	-
NM_000318.3(PEX2):c.834_838del (p.Phe278fs)	5828	PEX2	Likely pathogenic	267608188	RCV000409075\|RCV000411582;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895577	77895581	NC_000008.10:g.77895577AAGTA[1]	ClinGen:CA16041186
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)	5828	PEX2	Likely pathogenic	-1	RCV003476808;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895584	77895584		-
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)	5828	PEX2	Likely pathogenic	-1	RCV003476809;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895607	77895608		-
NM_000318.3(PEX2):c.791_795del (p.Cys264fs)	5828	PEX2	Likely pathogenic	-1	RCV003476804;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895620	77895624		-
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)	5828	PEX2	Likely pathogenic	-1	RCV003476802;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895738	77895739		-
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)	5828	PEX2	Likely pathogenic	-1	RCV003476805;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895865	77895865		-
NM_000318.3(PEX2):c.521_524del (p.His174fs)	5828	PEX2	Likely pathogenic	-1	RCV003476810;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895891	77895894		-
NM_000318.3(PEX2):c.502_503del (p.Glu168fs)	5828	PEX2	Likely pathogenic	1554584474	RCV000666754;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895912	77895913	8:g.77895912_77895913del	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.472del (p.Leu158fs)	5828	PEX2	Likely pathogenic	1554584487	RCV000668243;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895943	77895943	8:g.77895943_77895943del	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)	5828	PEX2	Likely pathogenic	-1	RCV003476803;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896019	77896020		-
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)	5828	PEX2	Likely pathogenic	1554584505	RCV000670666\|RCV003472127;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896060	77896061	8:g.77896060_77896061del	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.352del (p.Glu118fs)	5828	PEX2	Likely pathogenic	-1	RCV002469971\|RCV003475388;	N	MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100, Orphanet:79189\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896063	77896063	NC_000008.10:g.77896063del	-
NM_000318.3(PEX2):c.310del (p.Ile104fs)	5828	PEX2	Likely pathogenic	-1	RCV003476814;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896105	77896105		-
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)	5828	PEX2	Likely pathogenic	200065382	RCV000669502;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896111	77896111	8:g.77896111G>A	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.260del (p.Asn87fs)	5828	PEX2	Likely pathogenic	-1	RCV003476812;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896155	77896155		-
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)	5828	PEX2	Likely pathogenic	-1	RCV003476801;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896161	77896162		-
NM_000318.3(PEX2):c.233dup (p.Ser79fs)	5828	PEX2	Likely pathogenic	-1	RCV003476807;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896181	77896182		-
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)	5828	PEX2	Likely pathogenic	-1	RCV003476811;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896217	77896218		-
NM_000318.3(PEX2):c.188dup (p.Trp65fs)	5828	PEX2	Likely pathogenic	-1	RCV003476813;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896226	77896227		-
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)	5828	PEX2	Likely pathogenic	-1	RCV003476806;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896232	77896232		-
NM_000318.3(PEX2):c.*2973T>C	5828	PEX2	Uncertain significance	751974703	RCV000400919;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892524	77892524	NC_000008.10:g.77892524A>G	ClinGen:CA10625823	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2894T>C	5828	PEX2	Uncertain significance	569387185	RCV000355885;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892603	77892603	NC_000008.10:g.77892603A>G	ClinGen:CA10625826	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2787G>A	5828	PEX2	Uncertain significance	886063123	RCV000263439;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892710	77892710	NC_000008.10:g.77892710C>T	ClinGen:CA10625827	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2700G>T	5828	PEX2	Uncertain significance	1806788065	RCV001161835;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892797	77892797	8:g.77892797C>A	-
NM_000318.3(PEX2):c.*2663T>A	5828	PEX2	Benign	28435921	RCV000316203;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892834	77892834	NC_000008.10:g.77892834A>T	ClinGen:CA10625828	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2554G>A	5828	PEX2	Benign	116215385	RCV001161836;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892943	77892943	8:g.77892943C>T	-
NM_000318.3(PEX2):c.*2519G>A	5828	PEX2	Uncertain significance	1005895700	RCV001161837;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892978	77892978	8:g.77892978C>T	-
NM_000318.3(PEX2):c.*2518C>T	5828	PEX2	Uncertain significance	886063124	RCV000354675;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77892979	77892979	NC_000008.10:g.77892979G>A	ClinGen:CA10628336	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2466A>G	5828	PEX2	Uncertain significance	886063125	RCV000276451;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893031	77893031	NC_000008.10:g.77893031T>C	ClinGen:CA10631602	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2456C>T	5828	PEX2	Uncertain significance	1461205423	RCV001161838;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893041	77893041	8:g.77893041G>A	-
NM_000318.3(PEX2):c.*2446C>T	5828	PEX2	Benign	73242165	RCV000333872;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893051	77893051	NC_000008.10:g.77893051G>A	ClinGen:CA10631561	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2443A>G	5828	PEX2	Likely benign	76770837	RCV001163355;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893054	77893054	8:g.77893054T>C	-
NM_000318.3(PEX2):c.*2430T>C	5828	PEX2	Uncertain significance	886063126	RCV000386115;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893067	77893067	NC_000008.10:g.77893067A>G	ClinGen:CA10631603	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2404A>G	5828	PEX2	Uncertain significance	1806798109	RCV001163356;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893093	77893093	8:g.77893093T>C	-
NM_000318.3(PEX2):c.*2377A>G	5828	PEX2	Benign	4388434	RCV000275336;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893120	77893120	NC_000008.10:g.77893120T>C	ClinGen:CA10625830	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2338C>T	5828	PEX2	Benign	56231626	RCV000327549;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893159	77893159	NC_000008.10:g.77893159G>A	ClinGen:CA10628338	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2306A>G	5828	PEX2	Benign	59296540	RCV000384495;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893191	77893191	NC_000008.10:g.77893191T>C	ClinGen:CA10631604	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2294C>G	5828	PEX2	Uncertain significance	763651452	RCV000287637;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893203	77893203	NC_000008.10:g.77893203G>C	ClinGen:CA10625831	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2142A>G	5828	PEX2	Benign	79700176	RCV000344934;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893355	77893355	NC_000008.10:g.77893355T>C	ClinGen:CA10631562	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2057G>A	5828	PEX2	Uncertain significance	568202276	RCV000378491;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893440	77893440	NC_000008.10:g.77893440C>T	ClinGen:CA10631563	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2007A>T	5828	PEX2	Uncertain significance	558850392	RCV000286386;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893490	77893490	8:g.77893490T>A	ClinGen:CA10631564	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*2004C>T	5828	PEX2	Likely benign	117344716	RCV001165455;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893493	77893493	8:g.77893493G>A	-
NM_000318.3(PEX2):c.*1909G>T	5828	PEX2	Benign	112352942	RCV000338974;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893588	77893588	8:g.77893588C>A	ClinGen:CA10625837	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1858G>A	5828	PEX2	Uncertain significance	777834563	RCV001165456;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893639	77893639	8:g.77893639C>T	-
NM_000318.3(PEX2):c.*1854A>C	5828	PEX2	Uncertain significance	886063127	RCV000399840;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893643	77893643	8:g.77893643T>G	ClinGen:CA10628342	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1842G>C	5828	PEX2	Likely benign	184573256	RCV000299694;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893655	77893655	NC_000008.10:g.77893655C>G	ClinGen:CA10628343	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1811C>T	5828	PEX2	Uncertain significance	886063128	RCV000338221;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893686	77893686	NC_000008.10:g.77893686G>A	ClinGen:CA10625839	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1808C>A	5828	PEX2	Uncertain significance	980881594	RCV001158727;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893689	77893689	8:g.77893689G>T	-
NM_000318.3(PEX2):c.*1765G>A	5828	PEX2	Likely benign	60300869	RCV000398488;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893732	77893732	NC_000008.10:g.77893732C>T	ClinGen:CA10631610	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1755A>G	5828	PEX2	Uncertain significance	886063129	RCV000298598;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893742	77893742	NC_000008.10:g.77893742T>C	ClinGen:CA10625840	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1749A>T	5828	PEX2	Uncertain significance	556984036	RCV001158728;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893748	77893748	8:g.77893748T>A	-
NM_000318.3(PEX2):c.*1716A>G	5828	PEX2	Uncertain significance	192555214	RCV000369403;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893781	77893781	NC_000008.10:g.77893781T>C	ClinGen:CA10631565	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1696C>T	5828	PEX2	Benign	112199677	RCV000277391;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893801	77893801	NC_000008.10:g.77893801G>A	ClinGen:CA10625841	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1606T>G	5828	PEX2	Uncertain significance	1276104967	RCV001161940;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893891	77893891	8:g.77893891A>C	-
NM_000318.3(PEX2):c.*1602A>G	5828	PEX2	Uncertain significance	557330187	RCV000311398;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893895	77893895	NC_000008.10:g.77893895T>C	ClinGen:CA10625843	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1601T>A	5828	PEX2	Benign	116949534	RCV001161941;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893896	77893896	8:g.77893896A>T	-
NM_000318.3(PEX2):c.*1581T>A	5828	PEX2	Uncertain significance	1214852177	RCV001161942;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893916	77893916	8:g.77893916A>T	-
NM_000318.3(PEX2):c.*1561G>A	5828	PEX2	Uncertain significance	886063130	RCV000368367;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77893936	77893936	NC_000008.10:g.77893936C>T	ClinGen:CA10631567	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1448C>T	5828	PEX2	Likely benign	184740361	RCV000325601;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894049	77894049	NC_000008.10:g.77894049G>A	ClinGen:CA10625845	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1400A>G	5828	PEX2	Uncertain significance	1002618013	RCV001161943;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894097	77894097	8:g.77894097T>C	-
NM_000318.3(PEX2):c.*1370A>G	5828	PEX2	Uncertain significance	886063131	RCV000382416;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894127	77894127	NC_000008.10:g.77894127T>C	ClinGen:CA10628344	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1331T>C	5828	PEX2	Uncertain significance	950900674	RCV001163461;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894166	77894166	8:g.77894166A>G	-
NM_000318.3(PEX2):c.*1319A>T	5828	PEX2	Uncertain significance	912151931	RCV001163462;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894178	77894178	8:g.77894178T>A	-
NM_000318.3(PEX2):c.*1242A>G	5828	PEX2	Benign	73691481	RCV000266959;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894255	77894255	NC_000008.10:g.77894255T>C	ClinGen:CA10631568	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1194A>G	5828	PEX2	Benign	4311633	RCV000324558;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894303	77894303	NC_000008.10:g.77894303T>C	ClinGen:CA10631571	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1174A>G	5828	PEX2	Conflicting interpretations of pathogenicity	562263817	RCV001163463\|RCV003433065;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:C3661900	8	77894323	77894323	8:g.77894323T>C	-
NM_000318.3(PEX2):c.*1141G>A	5828	PEX2	Benign	10108054	RCV000376758;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894356	77894356	NC_000008.10:g.77894356C>T	ClinGen:CA10625846	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1085T>A	5828	PEX2	Uncertain significance	886063132	RCV000284721;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894412	77894412	NC_000008.10:g.77894412A>T	ClinGen:CA10631614	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1047T>A	5828	PEX2	Uncertain significance	886063133	RCV000337475;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894450	77894450	NC_000008.10:g.77894450A>T	ClinGen:CA10631574	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*1040C>G	5828	PEX2	Benign/Likely benign	139337482	RCV001163750\|RCV002264209;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:C3661900	8	77894457	77894457	8:g.77894457G>C	-
NM_000318.3(PEX2):c.*1012C>T	5828	PEX2	Uncertain significance	181539288	RCV001163751;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894485	77894485	8:g.77894485G>A	-
NM_000318.3(PEX2):c.*913C>T	5828	PEX2	Uncertain significance	886063134	RCV000375770;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894584	77894584	NC_000008.10:g.77894584G>A	ClinGen:CA10631619	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*819A>C	5828	PEX2	Uncertain significance	886063135	RCV000278278;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894678	77894678	NC_000008.10:g.77894678T>G	ClinGen:CA10628345	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*789C>T	5828	PEX2	Likely benign	144050052	RCV001163752;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894708	77894708	8:g.77894708G>A	-
NM_000318.3(PEX2):c.*780T>A	5828	PEX2	Uncertain significance	1806859817	RCV001163753;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894717	77894717	8:g.77894717A>T	-
NM_000318.3(PEX2):c.*773T>G	5828	PEX2	Uncertain significance	927177664	RCV001163754;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894724	77894724	8:g.77894724A>C	-
NM_000318.3(PEX2):c.*727T>C	5828	PEX2	Benign	4610720	RCV000335628;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894770	77894770	NC_000008.10:g.77894770A>G	ClinGen:CA10625847	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*705T>A	5828	PEX2	Uncertain significance	569163196	RCV001158842;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894792	77894792	8:g.77894792A>T	-
NM_000318.3(PEX2):c.*659C>G	5828	PEX2	Uncertain significance	551943990	RCV001158843;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894838	77894838	8:g.77894838G>C	-
NM_000318.3(PEX2):c.*645G>T	5828	PEX2	Uncertain significance	1806867628	RCV001158844;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894852	77894852	8:g.77894852C>A	-
NM_000318.3(PEX2):c.*627G>T	5828	PEX2	Uncertain significance	145960090	RCV000393396;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894870	77894870	NC_000008.10:g.77894870C>A	ClinGen:CA10631580	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*596G>A	5828	PEX2	Uncertain significance	139852334	RCV001158845;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894901	77894901	8:g.77894901C>T	-
NM_000318.3(PEX2):c.*595C>T	5828	PEX2	Uncertain significance	754113775	RCV000314494;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894902	77894902	NC_000008.10:g.77894902G>A	ClinGen:CA10625848	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*498G>A	5828	PEX2	Uncertain significance	541772029	RCV001160189;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77894999	77894999	8:g.77894999C>T	-
NM_000318.3(PEX2):c.*489C>T	5828	PEX2	Uncertain significance	886063136	RCV000348353;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895008	77895008	NC_000008.10:g.77895008G>A	ClinGen:CA10625852	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*458G>A	5828	PEX2	Benign	143201132	RCV000400491;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895039	77895039	NC_000008.10:g.77895039C>T	ClinGen:CA10631584	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*437T>C	5828	PEX2	Uncertain significance	1210536989	RCV001160190;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895060	77895060	8:g.77895060A>G	-
NM_000318.3(PEX2):c.*419T>G	5828	PEX2	Uncertain significance	1806878211	RCV001160191;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895078	77895078	8:g.77895078A>C	-
NM_000318.3(PEX2):c.*394T>C	5828	PEX2	Uncertain significance	1010520129	RCV001160192;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895103	77895103	8:g.77895103A>G	-
NM_000318.3(PEX2):c.*324G>T	5828	PEX2	Uncertain significance	886063137	RCV000308640;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895173	77895173	NC_000008.10:g.77895173C>A	ClinGen:CA10628346	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*319A>G	5828	PEX2	Likely benign	78045204	RCV001160193\|RCV003425965;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:C3661900	8	77895178	77895178	8:g.77895178T>C	-
NM_000318.3(PEX2):c.*233C>G	5828	PEX2	Likely benign	190595998	RCV000269718;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895264	77895264	NC_000008.10:g.77895264G>C	ClinGen:CA10631621	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*103C>G	5828	PEX2	Likely benign	529963492	RCV000308524;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895394	77895394	NC_000008.10:g.77895394G>C	ClinGen:CA10631629	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*91A>G	5828	PEX2	Uncertain significance	886063139	RCV000360942;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895406	77895406	NC_000008.10:g.77895406T>C	ClinGen:CA10631585	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*40G>A	5828	PEX2	Uncertain significance	148915806	RCV000268612;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895457	77895457	NC_000008.10:g.77895457C>T	ClinGen:CA4788620	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.*37C>T	5828	PEX2	Uncertain significance	886063140	RCV000321349;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895460	77895460	NC_000008.10:g.77895460G>A	ClinGen:CA10628348	C0043459 214100 Zellweger syndrome;
NC_000008.10:g.(?_77895497)_(77896414_?)dup	5828	PEX2	Uncertain significance	-1	RCV001913733;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895497	77896414	-1	-
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)	5828	PEX2	Uncertain significance	1554584372	RCV000672565;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895499	77895499	8:g.77895499A>G	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.912T>C (p.Ala304=)	5828	PEX2	Likely benign	1034467919	RCV002128739;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895503	77895503	77895503	-
NM_000318.3(PEX2):c.911C>T (p.Ala304Val)	5828	PEX2	Uncertain significance	-1	RCV002994484;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895504	77895504	NC_000008.10:g.77895504G>A	-
NM_000318.3(PEX2):c.897G>A (p.Met299Ile)	5828	PEX2	Uncertain significance	1806890153	RCV002024745;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895518	77895518	77895518	-
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)	5828	PEX2	Conflicting interpretations of pathogenicity	544763390	RCV000970645\|RCV001276113\|RCV001578803;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44	8	77895523	77895523	8:g.77895523C>T	-
NM_000318.3(PEX2):c.891C>T (p.Ile297=)	5828	PEX2	Likely benign	995695713	RCV001396818;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895524	77895524	77895524	-
NM_000318.3(PEX2):c.885A>G (p.Ser295=)	5828	PEX2	Likely benign	886332712	RCV002091573;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895530	77895530	77895530	-
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter)	5828	PEX2	Uncertain significance	1554584377	RCV000666847;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895531	77895531	8:g.77895531G>C	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.884C>T (p.Ser295Leu)	5828	PEX2	Uncertain significance	-1	RCV003009300;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895531	77895531	NC_000008.10:g.77895531G>A	-
NM_000318.3(PEX2):c.882A>G (p.Lys294=)	5828	PEX2	Likely benign	1244697838	RCV001442007;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895533	77895533	77895533	-
NM_000318.3(PEX2):c.881A>C (p.Lys294Thr)	5828	PEX2	Uncertain significance	2132042875	RCV002049657;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895534	77895534	77895534	-
NM_000318.3(PEX2):c.875C>T (p.Pro292Leu)	5828	PEX2	Uncertain significance	2132042879	RCV002018996;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895540	77895540	77895540	-
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg)	5828	PEX2	Uncertain significance	756496949	RCV001723431\|RCV002290741\|RCV002543878;	N	MedGen:C3661900\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895546	77895546	77895546	-
NM_000318.3(PEX2):c.868C>T (p.Leu290=)	5828	PEX2	Likely benign	2132042893	RCV002150399;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895547	77895547	77895547	-
NM_000318.3(PEX2):c.866G>A (p.Ser289Asn)	5828	PEX2	Uncertain significance	-1	RCV002668070;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895549	77895549	NC_000008.10:g.77895549C>T	-
NM_000318.3(PEX2):c.864C>T (p.His288=)	5828	PEX2	Likely benign	-1	RCV002857610;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895551	77895551		-
NM_000318.3(PEX2):c.857_859del (p.Glu286del)	5828	PEX2	Uncertain significance	1460738027	RCV000670056;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895556	77895558	8:g.77895556_77895558del	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.855A>G (p.Thr285=)	5828	PEX2	Likely benign	1806891966	RCV001453387;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895560	77895560	77895560	-
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg)	5828	PEX2	Uncertain significance	-1	RCV002844018;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895561	77895561	NC_000008.10:g.77895561G>C	-
NM_000318.3(PEX2):c.852C>T (p.Gly284=)	5828	PEX2	Uncertain significance	2132042925	RCV001866286;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895563	77895563	77895563	-
NM_000318.3(PEX2):c.843T>C (p.Pro281=)	5828	PEX2	Likely benign	-1	RCV002971293;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895572	77895572		-
NM_000318.3(PEX2):c.834T>C (p.Phe278=)	5828	PEX2	Likely benign	-1	RCV002741669;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895581	77895581		-
NM_000318.3(PEX2):c.831C>T (p.Tyr277=)	5828	PEX2	Likely benign	-1	RCV003049562;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895584	77895584		-
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys)	5828	PEX2	Uncertain significance	-1	RCV002790904;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895585	77895585	NC_000008.10:g.77895585T>C	-
NM_000318.3(PEX2):c.826G>C (p.Val276Leu)	5828	PEX2	Uncertain significance	746008519	RCV000595773\|RCV001221332\|RCV001829667;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895589	77895589	8:g.77895589C>G	ClinGen:CA4788645	CN169374 not specified;
NM_000318.3(PEX2):c.825C>T (p.Asp275=)	5828	PEX2	Conflicting interpretations of pathogenicity	367649632	RCV000593351\|RCV001080311\|RCV001279838;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895590	77895590	8:g.77895590G>A	ClinGen:CA4788647	CN169374 not specified;
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr)	5828	PEX2	Uncertain significance	-1	RCV002726704;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895606	77895606	NC_000008.10:g.77895606C>G	-
NM_000318.3(PEX2):c.798C>T (p.Phe266=)	5828	PEX2	Likely benign	143661965	RCV001444167;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895617	77895617	77895617	-
NM_000318.3(PEX2):c.793_797del (p.Tyr265fs)	5828	PEX2	Uncertain significance	2132043053	RCV001935401;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895618	77895622	77895617	-
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)	5828	PEX2	Conflicting interpretations of pathogenicity	764785488	RCV000405154\|RCV001078844\|RCV001275869;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895620	77895620	8:g.77895620A>G	ClinGen:CA4788653	CN169374 not specified;
NM_000318.3(PEX2):c.794A>G (p.Tyr265Cys)	5828	PEX2	Uncertain significance	2132043073	RCV002049110;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895621	77895621	77895621	-
NM_000318.3(PEX2):c.784A>G (p.Ile262Val)	5828	PEX2	Uncertain significance	1806895422	RCV001967177;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895631	77895631	77895631	-
NM_000318.3(PEX2):c.783T>C (p.His261=)	5828	PEX2	Likely benign	1586069185	RCV001476082;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895632	77895632	8:g.77895632A>G	-
NM_000318.3(PEX2):c.782A>G (p.His261Arg)	5828	PEX2	Conflicting interpretations of pathogenicity	749956542	RCV000674153\|RCV001855605\|RCV002265854\|RCV003156108;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:CN169374\|	8	77895633	77895633	8:g.77895633T>C	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu)	5828	PEX2	Uncertain significance	1428046580	RCV001898111;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895642	77895642	77895642	-
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)	5828	PEX2	Uncertain significance	199874465	RCV000359695\|RCV000660510\|RCV001828362;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895646	77895646	NC_000008.10:g.77895646T>C	ClinGen:CA4788656	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.768C>T (p.Thr256=)	5828	PEX2	Likely benign	1806896232	RCV002196751;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895647	77895647	77895647	-
NM_000318.3(PEX2):c.766A>G (p.Thr256Ala)	5828	PEX2	Uncertain significance	1220452895	RCV001921899;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895649	77895649	77895649	-
NM_000318.3(PEX2):c.765C>T (p.His255=)	5828	PEX2	Likely benign	2132043163	RCV002086708;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895650	77895650	77895650	-
NM_000318.3(PEX2):c.757A>G (p.Met253Val)	5828	PEX2	Uncertain significance	-1	RCV002581866;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895658	77895658	NC_000008.10:g.77895658T>C	-
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)	5828	PEX2	Uncertain significance	-1	RCV003080275;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895663	77895663	NC_000008.10:g.77895663G>A	-
NM_000318.3(PEX2):c.752C>G (p.Pro251Arg)	5828	PEX2	Uncertain significance	-1	RCV003054334;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895663	77895663	NC_000008.10:g.77895663G>C	-
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)	5828	PEX2	Conflicting interpretations of pathogenicity	142645936	RCV000117903\|RCV000262649\|RCV000435678\|RCV001082068\|RCV001578657\|RCV001835683;	N	MedGen:CN169374\|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100\|MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895667	77895667	8:g.77895667A>G	ClinGen:CA154235	CN517202 not provided;
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)	5828	PEX2	Uncertain significance	1277419329	RCV001829012\|RCV001243083\|RCV002568564;	N	MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77895673	77895673	8:g.77895673C>T	-
NM_000318.3(PEX2):c.738A>G (p.Leu246=)	5828	PEX2	Conflicting interpretations of pathogenicity	376101275	RCV000595305\|RCV001078723;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895677	77895677	8:g.77895677T>C	ClinGen:CA4788660	CN169374 not specified;
NM_000318.3(PEX2):c.738A>T (p.Leu246=)	5828	PEX2	Likely benign	376101275	RCV002124176;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895677	77895677	77895677	-
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)	5828	PEX2	Uncertain significance	-1	RCV003086292;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895678	77895678	NC_000008.10:g.77895678A>G	-
NM_000318.3(PEX2):c.736C>G (p.Leu246Val)	5828	PEX2	Uncertain significance	757764014	RCV001979222;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895679	77895679	77895679	-
NM_000318.3(PEX2):c.735T>C (p.Ala245=)	5828	PEX2	Likely benign	-1	RCV002858161;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895680	77895680		-
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)	5828	PEX2	Benign	112108739	RCV000250054\|RCV000832320\|RCV001079379\|RCV001275870;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895682	77895682	NC_000008.10:g.77895682C>T	ClinGen:CA4788662	CN169374 not specified;
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro)	5828	PEX2	Uncertain significance	112108739	RCV001202424\|RCV001833779;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895682	77895682	8:g.77895682C>G	-
NM_000318.3(PEX2):c.732C>T (p.Cys244=)	5828	PEX2	Likely benign	142121434	RCV000938066;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895683	77895683	8:g.77895683G>A	-
NM_000318.3(PEX2):c.729A>G (p.Glu243=)	5828	PEX2	Likely benign	931982876	RCV002014029;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895686	77895686	77895686	-
NM_000318.3(PEX2):c.726A>G (p.Lys242=)	5828	PEX2	Likely benign	2132043260	RCV002184890;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895689	77895689	77895689	-
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)	5828	PEX2	Conflicting interpretations of pathogenicity	150734057	RCV000078631\|RCV001085208;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895693	77895693	8:g.77895693C>A	ClinGen:CA220656	CN169374 not specified;
NM_000318.3(PEX2):c.720T>C (p.Ser240=)	5828	PEX2	Likely benign	914631161	RCV001531084\|RCV002071897;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895695	77895695	77895695	-
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg)	5828	PEX2	Uncertain significance	-1	RCV002852797;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895697	77895697	NC_000008.10:g.77895697T>G	-
NM_000318.3(PEX2):c.717C>T (p.Thr239=)	5828	PEX2	Likely benign	2132043284	RCV001395099\|RCV001836394;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895698	77895698	77895698	-
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile)	5828	PEX2	Uncertain significance	1264938864	RCV000686680\|RCV001829894;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895699	77895699	NC_000008.10:g.77895699G>A	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.715A>T (p.Thr239Ser)	5828	PEX2	Uncertain significance	-1	RCV003039400;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895700	77895700	NC_000008.10:g.77895700T>A	-
NM_000318.3(PEX2):c.714C>T (p.Ala238=)	5828	PEX2	Likely benign	1432397833	RCV002170703;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895701	77895701	77895701	-
NM_000318.3(PEX2):c.708A>G (p.Thr236=)	5828	PEX2	Likely benign	-1	RCV002578614;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895707	77895707		-
NM_000318.3(PEX2):c.708A>C (p.Thr236=)	5828	PEX2	Likely benign	-1	RCV002923788;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895707	77895707		-
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)	5828	PEX2	Uncertain significance	1554584423	RCV000669443;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895709	77895714	8:g.77895709_77895714del	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys)	5828	PEX2	Uncertain significance	747222660	RCV001359597\|RCV001825996;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895710	77895710	77895710	-
NM_000318.3(PEX2):c.703A>G (p.Asn235Asp)	5828	PEX2	Uncertain significance	1345316527	RCV001886084;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895712	77895712	77895712	-
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)	5828	PEX2	Uncertain significance	200868032	RCV000731121\|RCV001061646\|RCV001825465\|RCV002535189;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77895717	77895717	NC_000008.10:g.77895717C>T	-
NM_000318.3(PEX2):c.694A>G (p.Asn232Asp)	5828	PEX2	Uncertain significance	1806899956	RCV001957575;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895721	77895721	77895721	-
NM_000318.3(PEX2):c.693T>G (p.Pro231=)	5828	PEX2	Likely benign	-1	RCV002829470;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895722	77895722		-
NM_000318.3(PEX2):c.693T>A (p.Pro231=)	5828	PEX2	Likely benign	-1	RCV002994361;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895722	77895722		-
NM_000318.3(PEX2):c.688G>A (p.Ala230Thr)	5828	PEX2	Uncertain significance	1475641448	RCV001922552;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895727	77895727	77895727	-
NM_000318.3(PEX2):c.686G>A (p.Gly229Asp)	5828	PEX2	Uncertain significance	2132043367	RCV001957896;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895729	77895729	77895729	-
NM_000318.3(PEX2):c.685G>C (p.Gly229Arg)	5828	PEX2	Uncertain significance	-1	RCV003002035;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895730	77895730	NC_000008.10:g.77895730C>G	-
NM_000318.3(PEX2):c.681T>C (p.Leu227=)	5828	PEX2	Likely benign	-1	RCV002867101;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895734	77895734		-
NM_000318.3(PEX2):c.678T>C (p.Pro226=)	5828	PEX2	Likely benign	2132043403	RCV002143233;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895737	77895737	77895737	-
NM_000318.3(PEX2):c.673A>G (p.Ile225Val)	5828	PEX2	Uncertain significance	-1	RCV002628709;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895742	77895742	NC_000008.10:g.77895742T>C	-
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)	5828	PEX2	Uncertain significance	-1	RCV003121625;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895744	77895744	NC_000008.10:g.77895744C>T	-
NM_000318.3(PEX2):c.666A>G (p.Ser222=)	5828	PEX2	Conflicting interpretations of pathogenicity	1806901488	RCV001578655\|RCV001578656;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44	8	77895749	77895749	77895749	-
NM_000318.3(PEX2):c.659T>G (p.Leu220Arg)	5828	PEX2	Uncertain significance	773085309	RCV001923513;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895756	77895756	77895756	-
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn)	5828	PEX2	Uncertain significance	1806902121	RCV001980463;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895758	77895758	77895758	-
NM_000318.3(PEX2):c.657G>A (p.Lys219=)	5828	PEX2	Likely benign	-1	RCV002927225;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895758	77895758		-
NM_000318.3(PEX2):c.642G>A (p.Gln214=)	5828	PEX2	Likely benign	1201496727	RCV000919353;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895773	77895773	8:g.77895773C>T	-
NM_000318.3(PEX2):c.639C>T (p.Val213=)	5828	PEX2	Likely benign	-1	RCV003009539;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895776	77895776		-
NM_000318.3(PEX2):c.635A>G (p.Asn212Ser)	5828	PEX2	Conflicting interpretations of pathogenicity	764386648	RCV001930629\|RCV003289222;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77895780	77895780	77895780	-
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)	5828	PEX2	Uncertain significance	-1	RCV002918701\|RCV002931826\|RCV003331399;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44; MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895783	77895783	NC_000008.10:g.77895783A>G	-
NM_000318.3(PEX2):c.628C>T (p.Leu210Phe)	5828	PEX2	Uncertain significance	1420998615	RCV001901135;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895787	77895787	77895787	-
NM_000318.3(PEX2):c.621C>G (p.Leu207=)	5828	PEX2	Likely benign	1364915907	RCV002122086;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895794	77895794	77895794	-
NM_000318.3(PEX2):c.621C>T (p.Leu207=)	5828	PEX2	Likely benign	-1	RCV002881449;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895794	77895794		-
NM_000318.3(PEX2):c.619C>G (p.Leu207Val)	5828	PEX2	Uncertain significance	143986865	RCV000729548\|RCV001862178\|RCV003420293;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|	8	77895796	77895796	NC_000008.10:g.77895796G>C	-
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)	5828	PEX2	Uncertain significance	-1	RCV002765690;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895801	77895801	NC_000008.10:g.77895801A>C	-
NM_000318.3(PEX2):c.608T>G (p.Phe203Cys)	5828	PEX2	Uncertain significance	2132043579	RCV001973963;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895807	77895807	77895807	-
NM_000318.3(PEX2):c.607T>C (p.Phe203Leu)	5828	PEX2	Uncertain significance	1806904326	RCV001754849\|RCV001868435;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895808	77895808	77895808	-
NM_000318.3(PEX2):c.606A>T (p.Glu202Asp)	5828	PEX2	Uncertain significance	376974246	RCV001867414;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895809	77895809	77895809	-
NM_000318.3(PEX2):c.606A>G (p.Glu202=)	5828	PEX2	Likely benign	376974246	RCV002198268;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895809	77895809	77895809	-
NM_000318.3(PEX2):c.604G>C (p.Glu202Gln)	5828	PEX2	Uncertain significance	-1	RCV002297309;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895811	77895811	77895811	-
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)	5828	PEX2	Uncertain significance	-1	RCV002999067;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895814	77895814	NC_000008.10:g.77895814C>T	-
NM_000318.3(PEX2):c.600T>C (p.Phe200=)	5828	PEX2	Likely benign	-1	RCV003115127;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895815	77895815		-
NM_000318.3(PEX2):c.594T>C (p.His198=)	5828	PEX2	Likely benign	-1	RCV003017195;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895821	77895821		-
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)	5828	PEX2	Uncertain significance	-1	RCV003089513;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895831	77895831	NC_000008.10:g.77895831A>G	-
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly)	5828	PEX2	Uncertain significance	1806905614	RCV001903425;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895838	77895838	77895838	-
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)	5828	PEX2	Uncertain significance	-1	RCV002602546;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895840	77895840	NC_000008.10:g.77895840T>C	-
NM_000318.3(PEX2):c.573G>C (p.Met191Ile)	5828	PEX2	Uncertain significance	2132043654	RCV001911953;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895842	77895842	77895842	-
NM_000318.3(PEX2):c.571A>C (p.Met191Leu)	5828	PEX2	Uncertain significance	747946744	RCV001319059\|RCV001830324;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895844	77895844	77895844	-
NM_000318.3(PEX2):c.570C>T (p.Tyr190=)	5828	PEX2	Likely benign	769765158	RCV001473898;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895845	77895845	77895845	-
NM_000318.3(PEX2):c.555A>G (p.Glu185=)	5828	PEX2	Likely benign	-1	RCV002624986;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895860	77895860		-
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu)	5828	PEX2	Uncertain significance	2132043720	RCV002051165;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895864	77895865	77895864	-
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)	5828	PEX2	Benign	10087163	RCV000153682\|RCV000988075\|RCV001522468\|RCV001826826;	N	MedGen:CN169374\|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895865	77895865	8:g.77895865A>G	ClinGen:CA180286	CN169374 not specified;
NM_000318.3(PEX2):c.550= (p.Cys184=)	5828	PEX2	Benign	10087163	RCV000586023\|RCV001082036;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895865	77895865	8:g.77895865A>.	ClinGen:CA658683512	CN517202 not provided;
NM_000318.3(PEX2):c.526G>A (p.Val176Ile)	5828	PEX2	Uncertain significance	-1	RCV003026301;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895889	77895889	NC_000008.10:g.77895889C>T	-
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)	5828	PEX2	Conflicting interpretations of pathogenicity	770427885	RCV001163867\|RCV002252321;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|	8	77895891	77895891	8:g.77895891G>C	-
NM_000318.3(PEX2):c.517A>G (p.Ile173Val)	5828	PEX2	Uncertain significance	773748299	RCV001241914\|RCV003365282;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77895898	77895898	8:g.77895898T>C	-
NM_000318.3(PEX2):c.513A>G (p.Leu171=)	5828	PEX2	Likely benign	2132043808	RCV002182031;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895902	77895902	77895902	-
NM_000318.3(PEX2):c.511C>T (p.Leu171=)	5828	PEX2	Likely benign	-1	RCV002926675;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895904	77895904		-
NM_000318.3(PEX2):c.506G>T (p.Arg169Leu)	5828	PEX2	Uncertain significance	564144139	RCV001367906;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895909	77895909	77895909	-
NM_000318.3(PEX2):c.506G>A (p.Arg169His)	5828	PEX2	Uncertain significance	-1	RCV002637925;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895909	77895909	NC_000008.10:g.77895909C>T	-
NM_000318.3(PEX2):c.505C>G (p.Arg169Gly)	5828	PEX2	Uncertain significance	752394595	RCV002043916;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895910	77895910	77895910	-
NM_000318.3(PEX2):c.505C>T (p.Arg169Cys)	5828	PEX2	Uncertain significance	-1	RCV003061445;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895910	77895910	NC_000008.10:g.77895910G>A	-
NM_000318.3(PEX2):c.500C>G (p.Thr167Arg)	5828	PEX2	Uncertain significance	-1	RCV002605548;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895915	77895915	NC_000008.10:g.77895915G>C	-
NM_000318.3(PEX2):c.500C>T (p.Thr167Ile)	5828	PEX2	Uncertain significance	-1	RCV003043566;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895915	77895915	NC_000008.10:g.77895915G>A	-
NM_000318.3(PEX2):c.497T>G (p.Leu166Trp)	5828	PEX2	Uncertain significance	-1	RCV002721151;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895918	77895918	NC_000008.10:g.77895918A>C	-
NM_000318.3(PEX2):c.495T>C (p.Thr165=)	5828	PEX2	Likely benign	-1	RCV002578899;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895920	77895920		-
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn)	5828	PEX2	Uncertain significance	-1	RCV002299749;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895921	77895921	77895921	-
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)	5828	PEX2	Uncertain significance	-1	RCV003060787;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895927	77895927	NC_000008.10:g.77895927A>C	-
NM_000318.3(PEX2):c.483A>G (p.Gly161=)	5828	PEX2	Uncertain significance	2132043885	RCV001578654\|RCV001578806;	N	MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895932	77895932	77895932	-
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu)	5828	PEX2	Uncertain significance	761177481	RCV002015052\|RCV002486583\|RCV002625363;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MeSH:D030342,MedGen:C0950123	8	77895933	77895933	77895933	-
NM_000318.3(PEX2):c.481G>A (p.Gly161Arg)	5828	PEX2	Uncertain significance	377669414	RCV002019955;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895934	77895934	77895934	-
NM_000318.3(PEX2):c.477G>A (p.Gln159=)	5828	PEX2	Benign/Likely benign	35218706	RCV000337534\|RCV000972786\|RCV003422202;	N	MedGen:CN169374\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:C3661900	8	77895938	77895938	8:g.77895938C>T	ClinGen:CA4788702	CN169374 not specified;
NM_000318.3(PEX2):c.466A>G (p.Ile156Val)	5828	PEX2	Uncertain significance	148972539	RCV001325572\|RCV001831006\|RCV003284201;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77895949	77895949	77895949	-
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser)	5828	PEX2	Uncertain significance	755169713	RCV001303379\|RCV001830196;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895954	77895954	77895954	-
NM_000318.3(PEX2):c.456T>G (p.Ile152Met)	5828	PEX2	Uncertain significance	1475014070	RCV001163868;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895959	77895959	8:g.77895959A>C	-
NM_000318.3(PEX2):c.453G>A (p.Leu151=)	5828	PEX2	Likely benign	-1	RCV002863716;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895962	77895962		-
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro)	5828	PEX2	Uncertain significance	2132043971	RCV001954038;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895963	77895963	77895963	-
NM_000318.3(PEX2):c.450G>T (p.Gly150=)	5828	PEX2	Likely benign	2132043975	RCV002084544;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895965	77895965	77895965	-
NM_000318.3(PEX2):c.447T>G (p.Gly149=)	5828	PEX2	Conflicting interpretations of pathogenicity	375401977	RCV000728093\|RCV001086562\|RCV001276114;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77895968	77895968	NC_000008.10:g.77895968A>C	-
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)	5828	PEX2	Uncertain significance	-1	RCV002664026\|RCV003269524;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77895978	77895978	NC_000008.10:g.77895978A>G	-
NM_000318.3(PEX2):c.436T>C (p.Leu146=)	5828	PEX2	Likely benign	2132044010	RCV002125426;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895979	77895979	77895979	-
NM_000318.3(PEX2):c.429T>G (p.Ile143Met)	5828	PEX2	Uncertain significance	-1	RCV003018069;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77895986	77895986	NC_000008.10:g.77895986A>C	-
NM_000318.3(PEX2):c.415G>T (p.Val139Leu)	5828	PEX2	Uncertain significance	1806914302	RCV001034724;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896000	77896000	8:g.77896000C>A	-
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser)	5828	PEX2	Uncertain significance	2132044038	RCV001931342;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896003	77896003	77896003	-
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg)	5828	PEX2	Uncertain significance	-1	RCV002301556;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896005	77896005	77896005	-
NM_000318.3(PEX2):c.404T>C (p.Val135Ala)	5828	PEX2	Uncertain significance	549932565	RCV001245943\|RCV001835253\|RCV003414064;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|	8	77896011	77896011	8:g.77896011A>G	-
NM_000318.3(PEX2):c.402A>G (p.Lys134=)	5828	PEX2	Likely benign	953517125	RCV001405710;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896013	77896013	77896013	-
NM_000318.3(PEX2):c.399G>A (p.Gly133=)	5828	PEX2	Likely benign	760342808	RCV001458462;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896016	77896016	77896016	-
NM_000318.3(PEX2):c.393A>G (p.Ser131=)	5828	PEX2	Likely benign	1407170162	RCV002130235;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896022	77896022	77896022	-
NM_000318.3(PEX2):c.381T>C (p.His127=)	5828	PEX2	Likely benign	1806915769	RCV002197532;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896034	77896034	77896034	-
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser)	5828	PEX2	Uncertain significance	2132044121	RCV001883412;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896038	77896038	77896038	-
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)	5828	PEX2	Uncertain significance	199845625	RCV001066793\|RCV001833648\|RCV003346297;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896041	77896041	8:g.77896041C>T	-
NM_000318.3(PEX2):c.373C>A (p.Arg125=)	5828	PEX2	Uncertain significance	61752124	RCV001888982;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896042	77896042	77896042	-
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)	5828	PEX2	Uncertain significance	-1	RCV003010164;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896042	77896042	NC_000008.10:g.77896042G>C	-
NM_000318.3(PEX2):c.369G>A (p.Leu123=)	5828	PEX2	Likely benign	-1	RCV002608729;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896046	77896046		-
NM_000318.3(PEX2):c.368T>C (p.Leu123Ser)	5828	PEX2	Uncertain significance	2132044164	RCV002047108;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896047	77896047	77896047	-
NM_000318.3(PEX2):c.365A>T (p.Asp122Val)	5828	PEX2	Uncertain significance	-1	RCV003003330;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896050	77896050	NC_000008.10:g.77896050T>A	-
NM_000318.3(PEX2):c.362A>G (p.Tyr121Cys)	5828	PEX2	Uncertain significance	-1	RCV002938440;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896053	77896053	NC_000008.10:g.77896053T>C	-
NM_000318.3(PEX2):c.361T>C (p.Tyr121His)	5828	PEX2	Uncertain significance	1201697415	RCV002011033;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896054	77896054	77896054	-
NM_000318.3(PEX2):c.357A>C (p.Arg119=)	5828	PEX2	Likely benign	767740481	RCV001392497;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896058	77896058	77896058	-
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)	5828	PEX2	Uncertain significance	-1	RCV003039742;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896059	77896059	NC_000008.10:g.77896059C>T	-
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del)	5828	PEX2	Uncertain significance	1554584507	RCV000672893\|RCV002531325;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896061	77896063	8:g.77896061_77896063del	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.351A>G (p.Glu117=)	5828	PEX2	Likely benign	2132044225	RCV002209466;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896064	77896064	77896064	-
NM_000318.3(PEX2):c.348A>G (p.Leu116=)	5828	PEX2	Likely benign	777560932	RCV001433731;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896067	77896067	77896067	-
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser)	5828	PEX2	Uncertain significance	-1	RCV002761582;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896071	77896071	NC_000008.10:g.77896071C>G	-
NM_000318.3(PEX2):c.342G>A (p.Arg114=)	5828	PEX2	Likely benign	778787558	RCV001470415;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896073	77896073	77896073	-
NM_000318.3(PEX2):c.335G>C (p.Gly112Ala)	5828	PEX2	Uncertain significance	745832638	RCV001936175;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896080	77896080	77896080	-
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)	5828	PEX2	Uncertain significance	774994658	RCV001042037\|RCV001276115\|RCV002552506;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896084	77896084	8:g.77896084T>C	-
NM_000318.3(PEX2):c.327T>C (p.Cys109=)	5828	PEX2	Likely benign	746604322	RCV001495097;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896088	77896088	77896088	-
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)	5828	PEX2	Uncertain significance	148101729	RCV000285596\|RCV001163869\|RCV001828256\|RCV003165763;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896093	77896093	8:g.77896093C>G	ClinGen:CA4788734	CN169374 not specified;
NM_000318.3(PEX2):c.320C>T (p.Ala107Val)	5828	PEX2	Uncertain significance	2132044318	RCV002026128;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896095	77896095	77896095	-
NM_000318.3(PEX2):c.312C>G (p.Ile104Met)	5828	PEX2	Uncertain significance	1242924229	RCV001315053\|RCV001830287;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896103	77896103	77896103	-
NM_000318.3(PEX2):c.312C>A (p.Ile104=)	5828	PEX2	Likely benign	1242924229	RCV002189188;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896103	77896103	77896103	-
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)	5828	PEX2	Uncertain significance	200065382	RCV000734498\|RCV001066961\|RCV001825483\|RCV003165994;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896111	77896111	NC_000008.10:g.77896111G>T	-
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu)	5828	PEX2	Uncertain significance	-1	RCV002299168;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896117	77896117	77896117	-
NM_000318.3(PEX2):c.288G>A (p.Gln96=)	5828	PEX2	Likely benign	370236723	RCV000943559\|RCV001276116;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896127	77896127	8:g.77896127C>T	-
NM_000318.3(PEX2):c.285T>C (p.Tyr95=)	5828	PEX2	Likely benign	202204148	RCV002155097;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896130	77896130	77896130	-
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)	5828	PEX2	Uncertain significance	140963177	RCV000732005\|RCV001163870\|RCV001250053\|RCV001825468\|RCV002535252;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D	8	77896133	77896133	NC_000008.10:g.77896133T>A	-
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly)	5828	PEX2	Uncertain significance	-1	RCV002649567;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896135	77896135	NC_000008.10:g.77896135T>C	-
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)	5828	PEX2	Uncertain significance	-1	RCV003005403;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896137	77896137	NC_000008.10:g.77896137A>G	-
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr)	5828	PEX2	Uncertain significance	2132044452	RCV001879645;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896140	77896140	77896140	-
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)	5828	PEX2	Conflicting interpretations of pathogenicity	146354196	RCV000153683\|RCV001081360;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896146	77896146	8:g.77896146G>A	ClinGen:CA234531	CN169374 not specified;
NM_000318.3(PEX2):c.268T>A (p.Ser90Thr)	5828	PEX2	Uncertain significance	-1	RCV003061517;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896147	77896147	NC_000008.10:g.77896147A>T	-
NM_000318.3(PEX2):c.265T>A (p.Phe89Ile)	5828	PEX2	Uncertain significance	1463397236	RCV002035583;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896150	77896150	77896150	-
NM_000318.3(PEX2):c.263A>G (p.Asp88Gly)	5828	PEX2	Uncertain significance	-1	RCV002932066;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896152	77896152	NC_000008.10:g.77896152T>C	-
NM_000318.3(PEX2):c.257A>C (p.Lys86Thr)	5828	PEX2	Uncertain significance	754127143	RCV002033770;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896158	77896158	77896158	-
NM_000318.3(PEX2):c.252G>A (p.Lys84=)	5828	PEX2	Likely benign	1294597760	RCV002176005;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896163	77896163	77896163	-
NM_000318.3(PEX2):c.248T>C (p.Ile83Thr)	5828	PEX2	Uncertain significance	1806923661	RCV002038242;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896167	77896167	77896167	-
NM_000318.3(PEX2):c.247A>G (p.Ile83Val)	5828	PEX2	Uncertain significance	-1	RCV002966667;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896168	77896168	NC_000008.10:g.77896168T>C	-
NM_000318.3(PEX2):c.238G>A (p.Val80Ile)	5828	PEX2	Uncertain significance	-1	RCV003083759;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896177	77896177	NC_000008.10:g.77896177C>T	-
NM_000318.3(PEX2):c.237A>G (p.Ser79=)	5828	PEX2	Likely benign	138220337	RCV000349532\|RCV000884934\|RCV003430823;	N	MedGen:CN169374\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:C3661900	8	77896178	77896178	8:g.77896178T>C	ClinGen:CA4788748	CN169374 not specified;
NM_000318.3(PEX2):c.234G>A (p.Gln78=)	5828	PEX2	Likely benign	-1	RCV003025178;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896181	77896181		-
NM_000318.3(PEX2):c.231A>G (p.Gly77=)	5828	PEX2	Likely benign	-1	RCV002630221;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896184	77896184		-
NM_000318.3(PEX2):c.226G>T (p.Val76Leu)	5828	PEX2	Uncertain significance	1429397131	RCV001986635;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896189	77896189	77896189	-
NM_000318.3(PEX2):c.222C>T (p.Ala74=)	5828	PEX2	Likely benign	370886270	RCV002186505;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896193	77896193	77896193	-
NM_000318.3(PEX2):c.221C>G (p.Ala74Gly)	5828	PEX2	Uncertain significance	1305420150	RCV001915031;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896194	77896194	77896194	-
NM_000318.3(PEX2):c.221C>T (p.Ala74Val)	5828	PEX2	Uncertain significance	-1	RCV003039733;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896194	77896194	NC_000008.10:g.77896194G>A	-
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)	5828	PEX2	Conflicting interpretations of pathogenicity	35689779	RCV000382602\|RCV000514881\|RCV001086854\|RCV001578804;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44	8	77896206	77896206	8:g.77896206T>C	ClinGen:CA4788753	CN517202 not provided;
NM_000318.3(PEX2):c.207C>A (p.Ile69=)	5828	PEX2	Likely benign	-1	RCV002966093;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896208	77896208		-
NM_000318.3(PEX2):c.206T>C (p.Ile69Thr)	5828	PEX2	Uncertain significance	1180720095	RCV001915647;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896209	77896209	77896209	-
NM_000318.3(PEX2):c.205A>G (p.Ile69Val)	5828	PEX2	Uncertain significance	747866716	RCV001949927\|RCV002561394;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896210	77896210	77896210	-
NM_000318.3(PEX2):c.201C>T (p.Phe67=)	5828	PEX2	Likely benign	-1	RCV002610813;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896214	77896214		-
NM_000318.3(PEX2):c.198A>G (p.Arg66=)	5828	PEX2	Likely benign	2132044639	RCV002173967;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896217	77896217	77896217	-
NM_000318.3(PEX2):c.195G>T (p.Trp65Cys)	5828	PEX2	Uncertain significance	771377186	RCV002029203;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896220	77896220	77896220	-
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)	5828	PEX2	Uncertain significance	-1	RCV002605144;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896225	77896225	NC_000008.10:g.77896225A>T	-
NM_000318.3(PEX2):c.181T>C (p.Trp61Arg)	5828	PEX2	Uncertain significance	772704218	RCV002036939;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896234	77896234	77896234	-
NM_000318.3(PEX2):c.174G>A (p.Ala58=)	5828	PEX2	Conflicting interpretations of pathogenicity	150987080	RCV000731227\|RCV001492356;	N	MedGen:C3661900\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896241	77896241	NC_000008.10:g.77896241C>T	-
NM_000318.3(PEX2):c.174G>C (p.Ala58=)	5828	PEX2	Likely benign	150987080	RCV001434531;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896241	77896241	77896241	-
NM_000318.3(PEX2):c.173C>T (p.Ala58Val)	5828	PEX2	Uncertain significance	760636932	RCV001903020;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896242	77896242	77896242	-
NM_000318.3(PEX2):c.171A>G (p.Lys57=)	5828	PEX2	Likely benign	2132044697	RCV001456131;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896244	77896244	77896244	-
NM_000318.3(PEX2):c.166G>A (p.Val56Met)	5828	PEX2	Uncertain significance	2132044712	RCV001367687;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896249	77896249	77896249	-
NM_000318.3(PEX2):c.162A>G (p.Pro54=)	5828	PEX2	Likely benign	2132044722	RCV001395167;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896253	77896253	77896253	-
NM_000318.3(PEX2):c.162A>C (p.Pro54=)	5828	PEX2	Likely benign	2132044722	RCV002099855;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896253	77896253	77896253	-
NM_000318.3(PEX2):c.159_160delinsAT (p.Pro54Ser)	5828	PEX2	Uncertain significance	-1	RCV002904579;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896255	77896256	NC_000008.10:g.77896255_77896256delinsAT	-
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu)	5828	PEX2	Uncertain significance	549242503	RCV000372099;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896263	77896263	NC_000008.10:g.77896263C>A	ClinGen:CA10628349	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.152G>A (p.Arg51His)	5828	PEX2	Uncertain significance	549242503	RCV001325959\|RCV001831012\|RCV002546149;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896263	77896263	77896263	-
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys)	5828	PEX2	Uncertain significance	147209403	RCV001158942\|RCV003353181;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896264	77896264	8:g.77896264G>A	-
NM_000318.3(PEX2):c.148G>T (p.Ala50Ser)	5828	PEX2	Uncertain significance	-1	RCV002299180;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896267	77896267	77896267	-
NM_000318.3(PEX2):c.147A>G (p.Leu49=)	5828	PEX2	Likely benign	1257241388	RCV001397724;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896268	77896268	77896268	-
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)	5828	PEX2	Uncertain significance	-1	RCV002654635;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896272	77896272	NC_000008.10:g.77896272A>G	-
NM_000318.3(PEX2):c.142C>G (p.Leu48Val)	5828	PEX2	Uncertain significance	-1	RCV002299181;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896273	77896273	77896273	-
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)	5828	PEX2	Uncertain significance	750212948	RCV001239395\|RCV001578805\|RCV001834086\|RCV003284106;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896275	77896275	8:g.77896275C>G	-
NM_000318.3(PEX2):c.140G>A (p.Gly47Glu)	5828	PEX2	Uncertain significance	-1	RCV003121244;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896275	77896275	NC_000008.10:g.77896275C>T	-
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)	5828	PEX2	Uncertain significance	138590115	RCV000814886\|RCV001275876;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896276	77896276	8:g.77896276C>T	-
NM_000318.3(PEX2):c.129A>G (p.Gly43=)	5828	PEX2	Likely benign	779946897	RCV000882208\|RCV001276117;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896286	77896286	8:g.77896286T>C	-
NM_000318.3(PEX2):c.126T>C (p.His42=)	5828	PEX2	Likely benign	-1	RCV002605882;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896289	77896289		-
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu)	5828	PEX2	Uncertain significance	2132044807	RCV002004325;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896292	77896292	77896292	-
NM_000318.3(PEX2):c.123T>C (p.Phe41=)	5828	PEX2	Likely benign	-1	RCV002894855;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896292	77896292		-
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)	5828	PEX2	Uncertain significance	-1	RCV003005592;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896293	77896293	NC_000008.10:g.77896293A>T	-
NM_000318.3(PEX2):c.120C>T (p.Cys40=)	5828	PEX2	Likely benign	1586070272	RCV002066046;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896295	77896295	8:g.77896295G>A	-
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)	5828	PEX2	Uncertain significance	1427212561	RCV001158943;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896299	77896299	8:g.77896299T>C	-
NM_000318.3(PEX2):c.114T>G (p.Thr38=)	5828	PEX2	Likely benign	2132044827	RCV001422742;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896301	77896301	77896301	-
NM_000318.3(PEX2):c.112A>G (p.Thr38Ala)	5828	PEX2	Uncertain significance	935435870	RCV000734062\|RCV001855797;	N	MedGen:CN517202\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896303	77896303	NC_000008.10:g.77896303T>C	-
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)	5828	PEX2	Uncertain significance	-1	RCV003046010;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896306	77896306	NC_000008.10:g.77896306A>T	-
NM_000318.3(PEX2):c.108G>A (p.Gln36=)	5828	PEX2	Likely benign	113065004	RCV002113866;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896307	77896307	77896307	-
NM_000318.3(PEX2):c.105C>T (p.Ser35=)	5828	PEX2	Likely benign	1424842404	RCV001498574;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896310	77896310	77896310	-
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)	5828	PEX2	Uncertain significance	-1	RCV002996124;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896314	77896314	NC_000008.10:g.77896314C>G	-
NM_000318.3(PEX2):c.96A>G (p.Leu32=)	5828	PEX2	Likely benign	754405926	RCV000942734;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896319	77896319	8:g.77896319T>C	-
NM_000318.3(PEX2):c.94C>T (p.Leu32=)	5828	PEX2	Likely benign	-1	RCV002637289;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896321	77896321		-
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro)	5828	PEX2	Uncertain significance	1806931527	RCV001352374;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896323	77896323	77896323	-
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)	5828	PEX2	Conflicting interpretations of pathogenicity	149287302	RCV000078632\|RCV000660597\|RCV000967707\|RCV001276118\|RCV001546509;	N	MedGen:CN169374\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MedGen	8	77896324	77896324	NC_000008.10:g.77896324G>C	ClinGen:CA220659	CN169374 not specified;
NM_000318.3(PEX2):c.90G>A (p.Glu30=)	5828	PEX2	Likely benign	777639216	RCV002124118;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896325	77896325	77896325	-
NM_000318.3(PEX2):c.85C>T (p.Leu29=)	5828	PEX2	Likely benign	1277480138	RCV000977235;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896330	77896330	8:g.77896330G>A	-
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr)	5828	PEX2	Uncertain significance	-1	RCV002681464;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896333	77896333	NC_000008.10:g.77896333C>T	-
NM_000318.3(PEX2):c.78_80del (p.Asn26del)	5828	PEX2	Uncertain significance	1806932884	RCV001237380;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896335	77896337	8:g.77896335_77896337del	-
NM_000318.3(PEX2):c.78C>G (p.Asn26Lys)	5828	PEX2	Uncertain significance	-1	RCV002750162;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896337	77896337	NC_000008.10:g.77896337G>C	-
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)	5828	PEX2	Uncertain significance	977528373	RCV001043590\|RCV001276119;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896339	77896339	8:g.77896339T>C	-
NM_000318.3(PEX2):c.76A>C (p.Asn26His)	5828	PEX2	Uncertain significance	977528373	RCV001326251;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896339	77896339	77896339	-
NM_000318.3(PEX2):c.75A>G (p.Leu25=)	5828	PEX2	Likely benign	2132044926	RCV001394171;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896340	77896340	77896340	-
NM_000318.3(PEX2):c.73C>T (p.Leu25=)	5828	PEX2	Likely benign	1586070356	RCV001403096;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896342	77896342	77896342	-
NM_000318.3(PEX2):c.72A>G (p.Glu24=)	5828	PEX2	Likely benign	750660448	RCV002184402;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896343	77896343	77896343	-
NM_000318.3(PEX2):c.66A>C (p.Ala22=)	5828	PEX2	Likely benign	572094828	RCV000936253\|RCV001832133;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896349	77896349	8:g.77896349T>G	-
NM_000318.3(PEX2):c.63T>C (p.Asp21=)	5828	PEX2	Likely benign	-1	RCV002624032;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896352	77896352		-
NM_000318.3(PEX2):c.62A>G (p.Asp21Gly)	5828	PEX2	Uncertain significance	1484917700	RCV001886929;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896353	77896353	77896353	-
NM_000318.3(PEX2):c.57G>A (p.Gln19=)	5828	PEX2	Likely benign	2132044973	RCV002218055;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896358	77896358	77896358	-
NM_000318.3(PEX2):c.54C>T (p.Ser18=)	5828	PEX2	Likely benign	545785018	RCV001450922;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896361	77896361	77896361	-
NM_000318.3(PEX2):c.45A>G (p.Leu15=)	5828	PEX2	Likely benign	761947470	RCV001433788;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896370	77896370	77896370	-
NM_000318.3(PEX2):c.45A>C (p.Leu15=)	5828	PEX2	Likely benign	-1	RCV002988688;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896370	77896370		-
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)	5828	PEX2	Uncertain significance	-1	RCV003115617;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896371	77896371	NC_000008.10:g.77896371A>G	-
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)	5828	PEX2	Uncertain significance	-1	RCV002606602;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896383	77896383	NC_000008.10:g.77896383G>T	-
NM_000318.3(PEX2):c.24G>A (p.Ala8=)	5828	PEX2	Benign	9298285	RCV000332603\|RCV000676169\|RCV001275877;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:C3661900\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912	8	77896391	77896391	NC_000008.10:g.77896391C>T	ClinGen:CA4788781	CN517202 not provided;
NM_000318.3(PEX2):c.24G>T (p.Ala8=)	5828	PEX2	Likely benign	-1	RCV002939006;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896391	77896391		-
NM_000318.3(PEX2):c.23C>T (p.Ala8Val)	5828	PEX2	Uncertain significance	148428490	RCV001373048\|RCV001836379\|RCV003346534;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MONDO:MONDO:0019609,MedGen:C0043459, Orphanet:912\|MeSH:D030342,MedGen:C0950123	8	77896392	77896392	77896392	-
NM_000318.3(PEX2):c.22G>T (p.Ala8Ser)	5828	PEX2	Uncertain significance	2132045041	RCV001924373;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896393	77896393	77896393	-
NM_000318.3(PEX2):c.21T>C (p.Asn7=)	5828	PEX2	Likely benign	-1	RCV003115621;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896394	77896394		-
NM_000318.3(PEX2):c.19A>C (p.Asn7His)	5828	PEX2	Uncertain significance	576066189	RCV000303985\|RCV003258733\|RCV002519315;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896396	77896396	8:g.77896396T>G	ClinGen:CA4788783	CN169374 not specified;
NM_000318.3(PEX2):c.18G>A (p.Glu6=)	5828	PEX2	Likely benign	2132045054	RCV002089344;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896397	77896397	77896397	-
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)	5828	PEX2	Uncertain significance	-1	RCV003053183;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896399	77896399	NC_000008.10:g.77896399C>G	-
NM_000318.3(PEX2):c.15A>G (p.Lys5=)	5828	PEX2	Likely benign	2132045059	RCV002163399;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896400	77896400	77896400	-
NM_000318.3(PEX2):c.12A>G (p.Arg4=)	5828	PEX2	Likely benign	-1	RCV003029713;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896403	77896403		-
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp)	5828	PEX2	Uncertain significance	-1	RCV002576154;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896410	77896410	NC_000008.10:g.77896410G>T	-
NM_000318.3(PEX2):c.-17-2A>G	5828	PEX2	Conflicting interpretations of pathogenicity	1289852067	RCV000672992\|RCV001251181;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912; MONDO:MONDO:0013933,MedGen:C3542026,OMIM:614867, Orphanet:44\|MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77896433	77896433	8:g.77896433T>C	-	C3553940 614866 Peroxisome biogenesis disorder 5a (zellweger);
NM_000318.3(PEX2):c.-17-41G>T	5828	PEX2	Benign/Likely benign	10957830	RCV001532827\|RCV001720305;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912\|MedGen:C3661900	8	77896472	77896472	77896472	-
NM_000318.3(PEX2):c.-164C>A	5828	PEX2	Benign	12718	RCV000292942;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77912230	77912230	8:g.77912230G>T	ClinGen:CA4788808	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.-178C>T	5828	PEX2	Uncertain significance	886063141	RCV000350256;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77912244	77912244	NC_000008.10:g.77912244G>A	ClinGen:CA10631639	C0043459 214100 Zellweger syndrome;
NM_000318.3(PEX2):c.-183G>T	5828	PEX2	Uncertain significance	568404564	RCV000397914;	N	MONDO:MONDO:0013932,MedGen:C3553940,OMIM:614866, Orphanet:912	8	77912249	77912249	NC_000008.10:g.77912249C>A	ClinGen:CA4788810	C0043459 214100 Zellweger syndrome;

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